Due to the absence of well-controlled researches within the mitochondrial study field and no licensed therapies for mitochondria-related diseases in the USA, mitochondrial DNA (mtDNA) mutation identification and analysis techniques like mtDNA mutation screening and the analysis of mtDNA polymorphism bring great hope to fill the gap. After copious experiments and tests, the technologies have now matured to the position of treatment for these hard-to-cure diseases.

MtDNA is a small and circular DNA molecule in eukaryotic cells. Nowadays, mtDNA in human beings is about 16.5 kb and can encode 37 kinds of genes. To be more specific, mtDNA now encodes 2 rRNAs, 22 tRNAs, and 13 OXPHOS subunits as the consequence of great reduction over evolutionary time via the transfer of genes to the nuclear genome.

The mtDNA is relatively simple and enjoys high specificity and uniqueness. Researches have manifested that mtDNA is not only a good model for studying DNA transcription and replication but also a very ideal model system for studying the general problems of protein synthesis and nucleic acid in eukaryotic cells. The transmission, recombination, and other functions of mtDNA can be analyzed by various means and methods of molecular biology.

Unlike nuclear DNA, mtDNA lows in histone-like packaging proteins and is more susceptible to oxidative damage. With rudimentary mechanisms for repair, mtDNA is vulnerable to mutations, which accumulate within cells and also within the germline. A growing body of literature indicates that genetic mutations in mtDNA can induce dysfunction of mitochondria, which are tightly associated with many neurodegenerative diseases, mitochondrial diseases, neuromuscular disorders, etc.

With mtDNA mutation researches proceeding, scientists find mtDNA mutation can be identified via a variety of technical methods such as mtDNA mutation screening, as well as the analysis of the genetic polymorphism of mtDNA and the correlation between mtDNA mutations. These methods greatly contribute to the study of mitochondria-related diseases and the development of novel drugs.

MtDNA Mutation Screening
MtDNA is more vulnerable because of its limited repair capacity as mentioned above. Since most mitochondrial proteins are encoded by nuclear DNA, mitochondrial genome instability, including a large number of mitochondrial DNA deletions and point mutations, can be resulted from nuclear genome mutation. To address this issue, scientific institutions establish an integrated platform for when mitochondrial diseases may be caused by mutations and polymorphisms of the mitochondrial genome. Based on this platform, researchers can provide mtDNA mutation screening and a full range of analysis solutions.

The Analysis of Mitochondrial Genetic Polymorphism
In the aspect of mitochondrial genetic polymorphism, genetic markers based on nucleotide sequence variation among individuals are the direct reflection of genetic polymorphism at the DNA level and can directly reflect the differences of genomic DNA among individuals or populations. Mitochondrial genetic polymorphism analysis includes restriction fragment length polymorphism (RFLP), amplified fragment length polymorphism (AFLP), random amplified polymorphic DNA (RAPD), etc.

Mitochondrial Disease Association Analysis
Mitochondrial disease association analysis mainly covers mtDNA point mutation, mtDNA rearrangement mutation, and mtDNA deletion. Starting from these three aspects, experts can well explore the study of mtDNA mutation

At present, the technology of mtDNA mutation identification and analysis not only speeds up the studies of mitochondria but also the development of molecular biology. Moreover, it contributes to the treatment of mitochondrial disease.